NM_000834.5(GRIN2B):c.1568T>C (p.Val523Ala) AND Neurodevelopmental disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 29, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002277699.1

Allele description [Variation Report for NM_000834.5(GRIN2B):c.1568T>C (p.Val523Ala)]

NM_000834.5(GRIN2B):c.1568T>C (p.Val523Ala)

Gene:

GRIN2B:glutamate ionotropic receptor NMDA type subunit 2B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.1

Genomic location:

Preferred name:

NM_000834.5(GRIN2B):c.1568T>C (p.Val523Ala)

HGVS:

NC_000012.12:g.13615200A>G
NG_031854.2:g.371813T>C
NM_000834.5:c.1568T>CMANE SELECT
NP_000825.2:p.Val523Ala
NC_000012.11:g.13768134A>G

Protein change:

V523A

Links:

dbSNP: rs2136479447

NCBI 1000 Genomes Browser:

rs2136479447

Molecular consequence:

NM_000834.5:c.1568T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neurodevelopmental disorder
Identifiers:: MONDO: MONDO:0700092; MeSH: D065886; MedGen: C1535926

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Oncorhynchus mykiss haplotype MYS27 D-loop, partial sequence; tRNA-Phe (trnF) ge...
Oncorhynchus mykiss haplotype MYS27 D-loop, partial sequence; tRNA-Phe (trnF) gene, complete sequence; and 12S ribosomal RNA gene, partial sequence; mitochondrial
gi|299735168|gb|HM229319.1|

Nucleotide
RecName: Full=Bactoprenol-linked glucose translocase
RecName: Full=Bactoprenol-linked glucose translocase
gi|9910690|sp|P57021.1|GTRA_BPP22

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002564523	Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 29, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002564523

Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 29, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes, SCV002564523.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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